Mitochondrial Neurogastrointestinal Encephalopathy

National Organization for Rare Disorders, Inc.

ImportantIt is possible that the main title of the report Mitochondrial Neurogastrointestinal Encephalopathy is not the name you expected.

Disorder Subdivisions

None

General Discussion

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare multisystem disorder characterized by progressive degeneration of the muscles of the gastrointestinal tract causing gastrointestinal dysmotility, weakness of extra-ocular muscles causing drooping of the eyelids (ptosis) and restricted eye movements (ophthalmoparesis), degeneration of peripheral nerves causing altered sensation and weakness the distal arms and legs, and general wasting (cachexia). The specific symptoms associated with MNGIE vary from case to case and may include vomiting, nausea, diarrhea, abdominal pain, and numbness or sensations of pins and needles in the hands and feet. . Additional findings may occur in some cases. MNGIE is caused by changes (mutations) in the TYMP gene encoding thymidine phosphorylase (TP) and is inherited as an autosomal recessive trait.

MNGIE patients also show changes (e.g. depletions, deletions, or point mutations) in the genetic material (DNA) of the mitochondria. Mitochondria, found by the hundreds within virtually every cell of the body, generate most of the cellular energy through the respiratory chain enzymes (complexes I-V), which convert electrons derived from sugars and fats into ATP, the energy currency of the cell. The genetic blueprints for essential components of the respiratory chain are mitochondrial DNA (mtDNA). Disorders due to mitochondrial dysfunction, often defects of the respiratory chain, are called mitochondrial disease. Because energy is essential for many tissue functions, mitochondrial diseases typically affect multiple organs of the body.

Supporting Organizations

Association of Gastrointestinal Motility Disorders, Inc. (AGMD)

12 Roberts Drive

Bedford, MA 1730

Tel: (781)275-1300

Fax: (781)275-1304

Email: digestive.motility@gmail.com.

Website: http://www.agmd-gimotility.org

Children's Mitochondrial Disease Network

Mayfield House

30 Heber Walk

England, CW9 5JB

United Kingdom

Tel: 440160643946

Fax: 440160643946

Email: info@cmdn.org.uk

Website: http://www.emdn-mitonet.co.uk/

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

Website: http://rarediseases.info.nih.gov/GARD/

International Foundation for Functional Gastrointestinal Disorders

700 W. Virginia St., 201

Milwaukee, WI 53217

USA

Tel: (414)964-1799

Fax: (414)964-7176

Tel: (888)964-2001

Email: iffgd@iffgd.org

Website: http://www.iffgd.org

Let Them Hear Foundation

1900 University Avenue, Suite 101

East Palo Alto, CA 94303

Tel: (650)462-3174

Fax: (650)462-3144

Email: info@letthemhear.org

Website: http://www.letthemhear.org

MitoAction

PO Box 51474

Boston, MA 02205

Tel: (888)648-6228

Fax: (888)648-6228

Email: info@mitoaction.org

Website: http://www.MitoAction.org

Muscular Dystrophy Association

3300 East Sunrise Drive

Tucson, AZ 85718-3208

USA

Tel: (520)529-2000

Fax: (520)529-5300

Tel: (800)572-1717

Email: mda@mdausa.org

Website: http://www.mda.org/

Muscular Dystrophy Campaign

61 Southwark Street

London, SE1 0HL

United Kingdom

Tel: 2078034800

Email: info@musculardystrophyuk.org

Website: http://www.muscular-dystrophy.org

NIH/National Institute of Neurological Disorders and Stroke

P.O. Box 5801

Bethesda, MD 20824

Tel: (301)496-5751

Fax: (301)402-2186

Tel: (800)352-9424

Website: http://www.ninds.nih.gov/

New Horizons Un-Limited, Inc.

811 East Wisconsin Ave

P.O. Box 510034

Milwaukee, WI 53203

USA

Tel: (414)299-0124

Fax: (414)347-1977

Email: horizons@new-horizons.org

Website: http://www.new-horizons.org

Parent Education Network

500 W. Lott Street Suite A

Buffalo, WY 17402

Tel: (307) 684-2277

Email: npique@wpen.net

Website: http://www.wpen.net/

Society for Muscular Dystrophy Information International

P.O. Box 7490

Nova Scotia, B4V 2X6

Canada

Tel: 9026853961

Fax: 9026853962

Email: smdi@auracom.com

Website: http://www.nsnet.org/smdi/

United Mitochondrial Disease Foundation

8085 Saltsburg Road Suite 201

Pittsburgh, PA 15239

United States

Tel: (412)793-8077

Fax: (412)793-6477

Tel: (888)317-8633

Email: info@umdf.org

Website: http://www.umdf.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

Last Updated: 3/8/2012Copyright 2012 National Organization for Rare Disorders, Inc.

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